Varaico: Literature-Extracted Genetic Variants

Gene:AKR1C1
Variant:p.A253T

AKR1C1

136 papers

RefSeq Summary

This gene encodes a member of the aldo/keto reductase superfamily, which consists of more than 40 known enzymes and proteins. These enzymes catalyze the conversion of aldehydes and ketones to their co...

Pfam Domains

Aldo_ket_redaa 18–301UCSCAldo/keto reductase family

Gene Aliases

HGNC Name

aldo-keto reductase family 1 member C1

HGNC Previous Symbol

DDH1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001353.6
p.A253T
c.757G>A
Surrounding Variants
2 papers
NM_001353.6
p.A253V
c.758C>T
1 paper
NM_001353.6
p.T251I
c.752C>T
1 paper
NM_001353.6
p.R250Q
c.749G>A
2 papers
NM_001353.6
p.R250*
c.748C>T
1 paper
NM_001353.6
p.H248D
c.742C>G
1 paper
NM_001353.6
p.R258G
c.772C>G
5 papers
NM_001353.6
p.R258C
c.772C>T
2 papers
NM_001353.6
p.R258H
c.773G>A
1 paper
NM_001353.6
p.R258L
c.773G>T
1 paper
NM_001353.6
p.K247fs
c.739_740fs
1 paper
NM_001353.6
p.Y259C
c.776A>G
1 paper
NM_001353.6
p.Q260*
c.778C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."